Variant report

Variant	rs12498600
Chromosome Location	chr4:48263225-48263226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:48262092..48265166-chr4:48265573..48268015,3	K562	blood:
2	chr4:48214281..48216760-chr4:48261228..48263562,2	K562	blood:
3	chr4:48260906..48263782-chr4:48270701..48273043,3	K562	blood:
4	chr4:48255521..48259627-chr4:48261501..48267509,10	K562	blood:
5	chr4:48204514..48206447-chr4:48263037..48265705,2	K562	blood:
6	chr4:48260906..48263782-chr4:48270701..48272361,2	K562	blood:
7	chr4:48256167..48259627-chr4:48260322..48264297,6	K562	blood:
8	chr4:48257479..48259057-chr4:48261577..48263259,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10014883	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10517214	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510449	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643804	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1972082	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4695365	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6447625	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7662355	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7676110	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9291322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:48251400-48270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:48251800-48270200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:48256800-48264800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:48257000-48263600	Weak transcription	HSMM	muscle
6	chr4:48257400-48270600	Weak transcription	Right Ventricle	heart
7	chr4:48257400-48271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:48257400-48271200	Weak transcription	Esophagus	oesophagus
9	chr4:48257600-48265000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:48257600-48271200	Weak transcription	Gastric	stomach
11	chr4:48258000-48270800	Weak transcription	Fetal Intestine Small	intestine
12	chr4:48258400-48269400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:48258400-48270000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:48258400-48271200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr4:48262600-48264000	Flanking Active TSS	GM12878-XiMat	blood
16	chr4:48263000-48263400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:48263000-48263400	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:48263000-48263400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:48263000-48263400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr4:48263000-48263600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr4:48263000-48263600	Enhancers	Primary hematopoietic stem cells	blood
22	chr4:48263000-48263600	Enhancers	Fetal Lung	lung
23	chr4:48263000-48263600	Enhancers	K562	blood
24	chr4:48263000-48263800	Enhancers	Primary B cells from cord blood	blood
25	chr4:48263000-48264000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr4:48263000-48265000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48263200-48263600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr4:48263200-48263600	Weak transcription	Small Intestine	intestine
29	chr4:48263200-48264800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:48263200-48269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:48263200-48270600	Weak transcription	Thymus	Thymus

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